Incidental Mutation 'R9708:Tsc22d1'
| ID |
729918 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tsc22d1
|
| Ensembl Gene |
ENSMUSG00000022010 |
| Gene Name |
TSC22 domain family, member 1 |
| Synonyms |
Tgfb1i4, TSC-22, Egr5 |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.293)
|
| Stock # |
R9708 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
14 |
| Chromosomal Location |
76652401-76745205 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 76654664 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Aspartic acid
at position 381
(V381D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000044517
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000048371]
[ENSMUST00000110888]
[ENSMUST00000175984]
[ENSMUST00000176581]
[ENSMUST00000176886]
[ENSMUST00000177471]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000048371
AA Change: V381D
PolyPhen 2
Score 0.953 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000044517
Gene: ENSMUSG00000022010
AA Change: V381D
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
32 |
47 |
N/A |
INTRINSIC |
|
low complexity region
|
59 |
96 |
N/A |
INTRINSIC |
|
low complexity region
|
121 |
132 |
N/A |
INTRINSIC |
|
low complexity region
|
191 |
208 |
N/A |
INTRINSIC |
|
low complexity region
|
216 |
241 |
N/A |
INTRINSIC |
|
low complexity region
|
246 |
257 |
N/A |
INTRINSIC |
|
low complexity region
|
266 |
289 |
N/A |
INTRINSIC |
|
low complexity region
|
461 |
489 |
N/A |
INTRINSIC |
|
low complexity region
|
497 |
521 |
N/A |
INTRINSIC |
|
low complexity region
|
537 |
556 |
N/A |
INTRINSIC |
|
low complexity region
|
619 |
637 |
N/A |
INTRINSIC |
|
low complexity region
|
673 |
687 |
N/A |
INTRINSIC |
|
low complexity region
|
702 |
724 |
N/A |
INTRINSIC |
|
low complexity region
|
933 |
970 |
N/A |
INTRINSIC |
|
Pfam:TSC22
|
992 |
1048 |
7e-31 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000110888
|
| SMART Domains |
Protein: ENSMUSP00000106513
Gene: ENSMUSG00000022010
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
32 |
47 |
N/A |
INTRINSIC |
|
low complexity region
|
59 |
96 |
N/A |
INTRINSIC |
|
low complexity region
|
121 |
132 |
N/A |
INTRINSIC |
|
low complexity region
|
191 |
208 |
N/A |
INTRINSIC |
|
low complexity region
|
216 |
241 |
N/A |
INTRINSIC |
|
low complexity region
|
246 |
257 |
N/A |
INTRINSIC |
|
low complexity region
|
266 |
289 |
N/A |
INTRINSIC |
|
low complexity region
|
379 |
407 |
N/A |
INTRINSIC |
|
low complexity region
|
415 |
439 |
N/A |
INTRINSIC |
|
low complexity region
|
455 |
474 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
502 |
536 |
8.43e-5 |
PROSPERO |
|
low complexity region
|
537 |
555 |
N/A |
INTRINSIC |
|
low complexity region
|
591 |
605 |
N/A |
INTRINSIC |
|
low complexity region
|
620 |
642 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
644 |
676 |
8.43e-5 |
PROSPERO |
|
low complexity region
|
851 |
888 |
N/A |
INTRINSIC |
|
Pfam:TSC22
|
910 |
969 |
4.7e-34 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000175984
|
| SMART Domains |
Protein: ENSMUSP00000135307
Gene: ENSMUSG00000022010
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
77 |
114 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000176581
|
| SMART Domains |
Protein: ENSMUSP00000135789
Gene: ENSMUSG00000022010
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
78 |
115 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000176886
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000177471
|
| SMART Domains |
Protein: ENSMUSP00000134792
Gene: ENSMUSG00000022010
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
18 |
55 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.8%
- 10x: 99.1%
- 20x: 97.6%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the TSC22 domain family of leucine zipper transcription factors. The encoded protein is stimulated by transforming growth factor beta, and regulates the transcription of multiple genes including C-type natriuretic peptide. The encoded protein may play a critical role in tumor suppression through the induction of cancer cell apoptosis, and a single nucleotide polymorphism in the promoter of this gene has been associated with diabetic nephropathy. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Aug 2011]
PHENOTYPE: Mcie homozygous for a null allele exhibit increased proliferation of bone marrow cells and decreased kidney and heart weights. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc1 |
A |
T |
16: 14,254,417 (GRCm39) |
N576I |
probably damaging |
Het |
| Acss1 |
G |
T |
2: 150,471,752 (GRCm39) |
T334K |
probably damaging |
Het |
| Alox5 |
A |
G |
6: 116,392,537 (GRCm39) |
L328P |
probably damaging |
Het |
| Armc2 |
A |
T |
10: 41,839,744 (GRCm39) |
M407K |
possibly damaging |
Het |
| Asb3 |
A |
T |
11: 31,051,075 (GRCm39) |
I471F |
probably benign |
Het |
| Asph |
G |
A |
4: 9,542,233 (GRCm39) |
R335W |
probably damaging |
Het |
| B4galnt4 |
A |
G |
7: 140,647,657 (GRCm39) |
E415G |
probably benign |
Het |
| Btn2a2 |
G |
A |
13: 23,662,907 (GRCm39) |
P348S |
possibly damaging |
Het |
| Catsper2 |
A |
G |
2: 121,237,321 (GRCm39) |
V193A |
possibly damaging |
Het |
| Ccdc112 |
G |
A |
18: 46,444,780 (GRCm39) |
A33V |
probably benign |
Het |
| Cfap221 |
T |
A |
1: 119,860,619 (GRCm39) |
Y669F |
probably damaging |
Het |
| D030056L22Rik |
T |
G |
19: 18,690,776 (GRCm39) |
L30R |
possibly damaging |
Het |
| Fanca |
C |
A |
8: 124,001,263 (GRCm39) |
G1091* |
probably null |
Het |
| Foxl1 |
A |
G |
8: 121,855,077 (GRCm39) |
D126G |
possibly damaging |
Het |
| Gba1 |
T |
C |
3: 89,112,801 (GRCm39) |
S148P |
probably damaging |
Het |
| Gem |
G |
A |
4: 11,711,154 (GRCm39) |
R115H |
possibly damaging |
Het |
| Gm4924 |
T |
G |
10: 82,214,992 (GRCm39) |
L930R |
unknown |
Het |
| Iqgap3 |
C |
A |
3: 88,016,176 (GRCm39) |
F986L |
probably damaging |
Het |
| Irx5 |
A |
T |
8: 93,087,118 (GRCm39) |
D350V |
probably benign |
Het |
| Kng2 |
G |
T |
16: 22,815,801 (GRCm39) |
P365Q |
probably damaging |
Het |
| Lrp4 |
A |
T |
2: 91,342,076 (GRCm39) |
E1896D |
probably benign |
Het |
| Lrrk2 |
C |
A |
15: 91,634,482 (GRCm39) |
Y1415* |
probably null |
Het |
| Map2k7 |
C |
A |
8: 4,295,806 (GRCm39) |
H429N |
probably benign |
Het |
| Mogat1 |
T |
A |
1: 78,488,633 (GRCm39) |
L12Q |
probably damaging |
Het |
| Mov10 |
C |
T |
3: 104,704,613 (GRCm39) |
R766H |
probably benign |
Het |
| Mthfr |
G |
T |
4: 148,128,978 (GRCm39) |
E225* |
probably null |
Het |
| Mtmr11 |
T |
C |
3: 96,076,403 (GRCm39) |
F453L |
possibly damaging |
Het |
| Naip2 |
T |
C |
13: 100,298,087 (GRCm39) |
N650D |
probably damaging |
Het |
| Nek3 |
C |
T |
8: 22,618,742 (GRCm39) |
G497R |
unknown |
Het |
| Nol4 |
G |
T |
18: 22,828,053 (GRCm39) |
A337E |
probably damaging |
Het |
| Nrxn2 |
A |
G |
19: 6,581,882 (GRCm39) |
T1606A |
probably benign |
Het |
| Odad2 |
G |
T |
18: 7,288,633 (GRCm39) |
T78K |
probably benign |
Het |
| Or2ab1 |
G |
A |
11: 58,488,927 (GRCm39) |
R229H |
probably benign |
Het |
| Or4a71 |
T |
C |
2: 89,358,214 (GRCm39) |
N180S |
probably benign |
Het |
| Or5b124 |
G |
A |
19: 13,610,760 (GRCm39) |
C95Y |
probably damaging |
Het |
| Or5p6 |
T |
C |
7: 107,631,259 (GRCm39) |
Y97C |
probably benign |
Het |
| Paox |
C |
T |
7: 139,712,359 (GRCm39) |
R197* |
probably null |
Het |
| Pcdha8 |
A |
G |
18: 37,125,548 (GRCm39) |
D10G |
probably benign |
Het |
| Pde6h |
T |
G |
6: 136,936,359 (GRCm39) |
F34C |
probably damaging |
Het |
| Phkb |
T |
G |
8: 86,783,119 (GRCm39) |
S972A |
probably benign |
Het |
| Pik3c2g |
T |
A |
6: 139,606,865 (GRCm39) |
M304K |
probably benign |
Het |
| Rnf144b |
A |
G |
13: 47,397,912 (GRCm39) |
I281V |
probably damaging |
Het |
| Robo2 |
C |
T |
16: 73,770,197 (GRCm39) |
G509E |
possibly damaging |
Het |
| Sap30l |
A |
G |
11: 57,696,936 (GRCm39) |
R89G |
probably damaging |
Het |
| Scrn2 |
C |
T |
11: 96,922,928 (GRCm39) |
R124W |
probably damaging |
Het |
| Shcbp1l |
A |
T |
1: 153,328,011 (GRCm39) |
N574I |
probably damaging |
Het |
| Slfn8 |
T |
C |
11: 82,894,267 (GRCm39) |
I791V |
probably benign |
Het |
| Stard13 |
C |
T |
5: 150,986,961 (GRCm39) |
S183N |
possibly damaging |
Het |
| Tent5a |
A |
G |
9: 85,207,267 (GRCm39) |
M177T |
possibly damaging |
Het |
| Tpbg |
A |
G |
9: 85,726,574 (GRCm39) |
N181S |
probably benign |
Het |
| Uhrf1 |
A |
G |
17: 56,629,357 (GRCm39) |
D735G |
probably benign |
Het |
| Vmn2r13 |
T |
A |
5: 109,322,007 (GRCm39) |
D230V |
probably benign |
Het |
| Vwf |
T |
A |
6: 125,634,053 (GRCm39) |
V2116E |
|
Het |
| Zfp616 |
G |
A |
11: 73,976,283 (GRCm39) |
G851S |
probably damaging |
Het |
| Zranb1 |
G |
T |
7: 132,584,600 (GRCm39) |
E623* |
probably null |
Het |
|
| Other mutations in Tsc22d1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00499:Tsc22d1
|
APN |
14 |
76,656,357 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL00515:Tsc22d1
|
APN |
14 |
76,655,917 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL00703:Tsc22d1
|
APN |
14 |
76,742,268 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
IGL00974:Tsc22d1
|
APN |
14 |
76,743,882 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01015:Tsc22d1
|
APN |
14 |
76,656,181 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
IGL01515:Tsc22d1
|
APN |
14 |
76,742,739 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02172:Tsc22d1
|
APN |
14 |
76,655,132 (GRCm39) |
missense |
probably benign |
0.04 |
|
IGL02307:Tsc22d1
|
APN |
14 |
76,653,901 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02553:Tsc22d1
|
APN |
14 |
76,654,838 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
IGL02870:Tsc22d1
|
APN |
14 |
76,655,057 (GRCm39) |
missense |
probably benign |
0.42 |
|
IGL02989:Tsc22d1
|
APN |
14 |
76,656,341 (GRCm39) |
missense |
probably benign |
0.05 |
|
IGL03216:Tsc22d1
|
APN |
14 |
76,656,077 (GRCm39) |
missense |
probably benign |
0.02 |
|
R0127:Tsc22d1
|
UTSW |
14 |
76,656,421 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R0416:Tsc22d1
|
UTSW |
14 |
76,742,743 (GRCm39) |
splice site |
probably benign |
|
|
R0854:Tsc22d1
|
UTSW |
14 |
76,655,641 (GRCm39) |
nonsense |
probably null |
|
|
R0963:Tsc22d1
|
UTSW |
14 |
76,656,039 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R1370:Tsc22d1
|
UTSW |
14 |
76,675,104 (GRCm39) |
intron |
probably benign |
|
|
R1736:Tsc22d1
|
UTSW |
14 |
76,655,797 (GRCm39) |
missense |
probably benign |
0.08 |
|
R1751:Tsc22d1
|
UTSW |
14 |
76,655,542 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1760:Tsc22d1
|
UTSW |
14 |
76,654,388 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R1767:Tsc22d1
|
UTSW |
14 |
76,655,542 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2020:Tsc22d1
|
UTSW |
14 |
76,655,773 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2209:Tsc22d1
|
UTSW |
14 |
76,656,180 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2439:Tsc22d1
|
UTSW |
14 |
76,654,707 (GRCm39) |
unclassified |
probably benign |
|
|
R2471:Tsc22d1
|
UTSW |
14 |
76,655,644 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3114:Tsc22d1
|
UTSW |
14 |
76,654,777 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3907:Tsc22d1
|
UTSW |
14 |
76,653,983 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R3973:Tsc22d1
|
UTSW |
14 |
76,656,049 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3974:Tsc22d1
|
UTSW |
14 |
76,656,049 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3975:Tsc22d1
|
UTSW |
14 |
76,656,049 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3976:Tsc22d1
|
UTSW |
14 |
76,656,049 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4292:Tsc22d1
|
UTSW |
14 |
76,656,320 (GRCm39) |
missense |
probably benign |
0.12 |
|
R4612:Tsc22d1
|
UTSW |
14 |
76,656,445 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R4806:Tsc22d1
|
UTSW |
14 |
76,654,428 (GRCm39) |
splice site |
probably null |
|
|
R4980:Tsc22d1
|
UTSW |
14 |
76,655,696 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5068:Tsc22d1
|
UTSW |
14 |
76,655,750 (GRCm39) |
missense |
probably benign |
0.44 |
|
R5070:Tsc22d1
|
UTSW |
14 |
76,655,750 (GRCm39) |
missense |
probably benign |
0.44 |
|
R5239:Tsc22d1
|
UTSW |
14 |
76,655,852 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5360:Tsc22d1
|
UTSW |
14 |
76,654,707 (GRCm39) |
unclassified |
probably benign |
|
|
R5400:Tsc22d1
|
UTSW |
14 |
76,654,494 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5616:Tsc22d1
|
UTSW |
14 |
76,653,657 (GRCm39) |
unclassified |
probably benign |
|
|
R5726:Tsc22d1
|
UTSW |
14 |
76,742,757 (GRCm39) |
nonsense |
probably null |
|
|
R5934:Tsc22d1
|
UTSW |
14 |
76,656,266 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R6860:Tsc22d1
|
UTSW |
14 |
76,655,732 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R6904:Tsc22d1
|
UTSW |
14 |
76,743,923 (GRCm39) |
nonsense |
probably null |
|
|
R7016:Tsc22d1
|
UTSW |
14 |
76,654,982 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7274:Tsc22d1
|
UTSW |
14 |
76,654,154 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7482:Tsc22d1
|
UTSW |
14 |
76,655,927 (GRCm39) |
missense |
probably benign |
0.10 |
|
R7532:Tsc22d1
|
UTSW |
14 |
76,653,486 (GRCm39) |
unclassified |
probably benign |
|
|
R7536:Tsc22d1
|
UTSW |
14 |
76,742,203 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7784:Tsc22d1
|
UTSW |
14 |
76,654,141 (GRCm39) |
nonsense |
probably null |
|
|
R8161:Tsc22d1
|
UTSW |
14 |
76,654,460 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8405:Tsc22d1
|
UTSW |
14 |
76,655,734 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8963:Tsc22d1
|
UTSW |
14 |
76,656,266 (GRCm39) |
missense |
probably benign |
0.06 |
|
R9150:Tsc22d1
|
UTSW |
14 |
76,654,056 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9259:Tsc22d1
|
UTSW |
14 |
76,654,484 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9431:Tsc22d1
|
UTSW |
14 |
76,654,707 (GRCm39) |
unclassified |
probably benign |
|
|
R9439:Tsc22d1
|
UTSW |
14 |
76,743,899 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9614:Tsc22d1
|
UTSW |
14 |
76,653,983 (GRCm39) |
missense |
probably damaging |
0.98 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTGTGGGTAGTTTCAGTCCC -3'
(R):5'- CACCACTTTATTGACGGCCAC -3'
Sequencing Primer
(F):5'- TTTCAGTCCCAGTGTGACGAACAG -3'
(R):5'- ACGCCTTCTGTAGCTGGCAC -3'
|
| Posted On |
2022-10-06 |
Incidental Mutation